Case | Sex | CSF1R Mutation | Origin | FH | Age at Onset (yr) | Age at CT (yr) | Section Thickness (mm) | Location of Calcifications | Stepping Stone Appearance on Sagittal CT | |
---|---|---|---|---|---|---|---|---|---|---|
Frontal | Parietal | |||||||||
1 | F | c.1765G>A/p.G589Ra | Japan | − | 37 | 44 | 5 | + | + | + |
2 | F | c.1954G>C/p.A652Pa | Japan | − | 30 | 31 | 2 | + | + | NA |
3 | F | c.2442+5G>Aa | Japan | + | 27 | 28 | 1 | + | − | + |
4 | M | c.2442+5G>Aa | Japan | + | 58 | 61 | 4 (1)c | + | + | + |
5 | F | c.2442+5G>C | US | − | 23 | 0, 24 | 6, 5 | + | + | + |
6 | F | c.2297T>C/p.M766T | US | + | 18 | 30 | 1.3 (1)c | + | − | + |
7 | M | c.1766G>A/p.G589E | US | + | 58 | 60 | 3 | + | − | NA |
8 | F | c.1766G>A/p.G589E | US | + | 47 | 52 | 7 | + | + | NA |
9 | M | Untestedb | US | − | 57 | 67 | 3 | + | − | NA |